Pyruvate carboxylase deficiency
ORPHA:3008· ICD-10 E74.4
Definition
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal